Mandal, KausikBoggula, Vijay RBorkar, MinalAgarwal, SurakshaPhadke, Shubha2012-10-232012-10-232009-10Mandal Kausik, Boggula Vijay R, Borkar Minal, Agarwal Suraksha, Phadke Shubha. Use of multiplex ligation-dependent probe amplification (MLPA) in screening of subtelomeric regions in children with idiopathic mental retardation. Indian Journal of Pediatrics. 2009 Oct; 76(10): 1027-1031.http://imsear.searo.who.int/handle/123456789/142398Objective. To detect subtelomeric copy number variations (deletions and duplications) using Multiplex Ligation-Dependent Probe Amplification (MLPA) technique in children with idiopathic mental retardation. Methods. All children presenting to the genetics out-patient department for evaluation of mental retardation or developmental delay over a period of two years, for whom no identifiable cause could be found by clinical evaluation, karyotyping, neuroimaging and other relevant investigations. Results. In the present study, two cases deletions and one case of duplication were detected amongst 65 cases with idiopathic mental retardation/ global developmental delay. The overall detection rate is 4.6%. The detection rate is higher (13%) in children with facial dysmorphism. Conclusion. MLPA for subtelomeric regions is recommended for evaluation of children with idiopathic mental retardation/ global developmental delay were included in the study.enMental retardationEtilogySubtelomeresMLPAAdolescentAge DistributionChildChild, PreschoolConfidence IntervalsDevelopmental Disabilities --diagnosisDevelopmental Disabilities --epidemiologyDevelopmental Disabilities --geneticsFemaleFollow-Up StudiesGene DeletionGene DuplicationGenetic Testing --methodsHumansIn Situ Hybridization, FluorescenceIncidenceIndiaInfantIntellectual Disability --diagnosisIntellectual Disability --epidemiologyIntellectual Disability --geneticsMaleNucleic Acid Amplification Techniques --methodsOdds RatioProbabilityProspective StudiesSex DistributionTelomere --geneticsArticle